Canonical Allele Identifier: CA1327150009

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1698853183
• gnomAD v4: 2-214953772-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953772G>T , CM000664.2:g.214953772G>T	GRCh38
NC_000002.11:g.215818496G>T , CM000664.1:g.215818496G>T	GRCh37
NC_000002.10:g.215526741G>T	NCBI36
NG_007074.1:g.189656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6647+82C>A (ABCA12) MANE Select	ENSP00000272895.7:n.6647+82C>A
ENST00000272895.11:c.6647+82C>A (ABCA12)	ENSP00000272895.7:n.6647+82C>A
ENST00000389661.4:c.5693+82C>A (ABCA12)	ENSP00000374312.4:n.5693+82C>A
NM_015657.3:c.5693+82C>A (ABCA12)	NP_056472.2:n.5693+82C>A
NM_173076.2:c.6647+82C>A (ABCA12)	NP_775099.2:n.6647+82C>A
NR_103740.1:n.6947+82C>A (ABCA12)
NR_110292.1:n.444+5825G>T (SNHG31)
XM_011510951.1:c.6656+82C>A (ABCA12)	XP_011509253.1:n.6656+82C>A
XM_011510951.2:c.6656+82C>A (ABCA12)	XP_011509253.1:n.6656+82C>A
NM_173076.3:c.6647+82C>A (ABCA12) MANE Select	NP_775099.2:n.6647+82C>A
NR_103740.2:n.7145+82C>A (ABCA12)
NM_015657.4:c.5693+82C>A (ABCA12)	NP_056472.2:n.5693+82C>A